title: Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation.
abstract: BACKGROUND
  Disorders of oxidative phosphorylation affects 1/5000 individuals and present heterogeneous involvement of tissues highly dependent upon ATP production.
  
  
  METHODS
  Here we present the case of a 48-year-old woman carrying a homozygous mutation (p.A899T) in mitochondrial polymerase gamma (POLG) and manifesting with a complex neurological phenotype including Dopamine-agonist responsive Parkinsonism.
  
  
  CONCLUSIONS
  This case report is further evidence that mitochondrial dysfunction might play a role in Parkinson's Disease pathogenesis and helps in identification of apparent mutation-specific clinical characteristics. Mutations in POLG should be looked for in cases of Parkinsonism, especially when multisystem neurological involvement is found.
authors.affiliation: Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and IRCSS Azienda Opedaliera Universitaria San Martino-IST, Largo Daneo 3-16132, Genova, Italy. monicabandettini@yahoo.it.
authors.forename: Monica
authors.initials: M
authors.lastname: Bandettini di Poggio
authors.forename: Claudia
authors.initials: C
authors.lastname: Nesti
authors.forename: Claudio
authors.initials: C
authors.lastname: Bruno
authors.forename: Maria Chiara
authors.initials: MC
authors.lastname: Meschini
authors.forename: Angelo
authors.initials: A
authors.lastname: Schenone
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D052160:Benzothiazoles / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase / Q000235:genetics* / Q000378:metabolism; D018491:Dopamine Agonists / Q000627:therapeutic use*; D000068736:Duloxetine Hydrochloride; D004401:Dysarthria / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology; D009886:Ophthalmoplegia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010300:Parkinson Disease / Q000150:complications / Q000188:drug therapy*; D000077487:Pramipexole; D013876:Thiophenes / Q000627:therapeutic use; D015899:Tomography, Emission-Computed, Single-Photon
chemical_list: D052160:Benzothiazoles; D018491:Dopamine Agonists; D013876:Thiophenes; D000077487:Pramipexole; D000068736:Duloxetine Hydrochloride; D000074002:DNA Polymerase gamma; D004259:DNA-Directed DNA Polymerase; C413027:POLG protein, human